ICD-11 code : 5A00.00;
Preferred Label : Permanent congenital hypothyroidism with diffuse goitre;
ICD-11 definition : 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
characterized 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.;
ICD-11 synonym : congenital hypothyroidism with diffuse goitre; goitrous cretin;
ICD-11 inclusion : congenital diffuse goitre; neonatal struma; congenital goitre NOS; congenital substernal goitre; congenital plunging goitre; congenital parenchymatous struma; congenital diffuse struma; congenital nontoxic parenchymatous goitre; congenital nontoxic goitre; congenital struma; congenital parenchymatous goitre;
Origin ID : 234769120;
UMLS CUI : C0342149;
Currated CISMeF NLP mapping
- ICD-10 Mapping
- Semantic type(s)
- UMLS correspondences (same concept)
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
characterized 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.
