Permanent congenital hypothyroidism with diffuse goitre

Description

A condition caused by a partial or complete loss of thyroid function due to failure of the thyroid to correctly develop during the antenatal period. This condition is characterised by a swollen, smooth thyroid gland, and in infants by a dull look, puffy face, and thick tongue that sticks out. This condition may also present with choking episodes, constipation, dry brittle hair, jaundice, lack of muscle tone, low hairline, poor feeding, short height, sleepiness, or sluggishness.

Index terms

Permanent congenital hypothyroidism with diffuse goitre
congenital diffuse goitre
congenital diffuse struma

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congenital goitre NOS
congenital hypothyroidism with diffuse goitre
congenital nontoxic goitre
congenital nontoxic parenchymatous goitre
congenital parenchymatous goitre
congenital parenchymatous struma
congenital plunging goitre
congenital struma
congenital substernal goitre
goitrous cretin
neonatal struma
Primary congenital hypothyroidism due to impaired hormone production
Dyshormonogenetic hypothyroidism
Familial dyshormonogenetic goitre
Familial thyroid dyshormonogenesis
Hereditary thyroid dyshormonogenesis
dyshormogenetic goitre
dyshormogenetic struma
familial dyshormogenetic goitre
Congenital hypothyroidism due to iodotyrosine deiodinase
Congenital hypothyroidism due to dual oxidase 2 mutation
Congenital hypothyroidism due to dual oxidase maturation factor 2
Congenital hypothyroidism due to iodine or sodium symporter mutations
Congenital hypothyroidism due to thyroglobulin mutations
Congenital hypothyroidism due to thyroid deiodinase mutations
Congenital hypothyroidism due to thyroid peroxidase mutations
Hypothyroidism with sensorineural deafness
Genetic defect in thyroid hormonogenesis 2B
thyroid hormone organification defect ii b
Hypothyroidism due to peripheral resistance to thyroid hormones
Mutation of the thyroid receptor beta

Excludes

KB62.Y – transitory congenital goitre with normal function

Exclusions from above levels

18 – Pregnancy, childbirth or the puerperium
http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

5A00.01 – Permanent congenital hypothyroidism without goitre
5A00.02 – Pendred syndrome
5A00.03 – Transient congenital hypothyroidism
5A00.04 – Congenital hypothyroidism due to iodine deficiency
5A00.0Y – Other specified congenital hypothyroidism
5A00.0Z – Congenital hypothyroidism, unspecified

Foundation entity

Permanent congenital hypothyroidism with diffuse goitre – http://id.who.int/icd/entity/234769120

Part of: 5A00.0: Congenital hypothyroidism › 5A00: Hypothyroidism › 05: Endocrine, nutritional or metabolic diseases