Hypothyroidism, congenital, nongoitrous, 4

Preferred Label : Hypothyroidism, congenital, nongoitrous, 4;

Symbol : CHNG4;

CISMeF acronym : CHNG4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thyrotropin deficiency, isolated; Thyroid-stimulating hormone deficiency; Tsh deficiency; Pituitary cretinism;

Included titles and symbols : Thyrotropin, biologically inactive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thyroid-stimulating hormone, beta polypeptide gene (TSHB, 188540.0001);

Laboratory abnormalities : Low to normal TSH (values may vary depending on the measurement methods used);

Prefixed ID : #275100;

Details

Origin ID

275100;

UMLS CUI

C0271789;

Automatic exact mappings (from CISMeF team)
- Central Hypothyroidism [NCIt concept]
- Pituitary hypothyroidism [HPO term]
- Secondary hypothyroidism (disorder) [SNOMED CT concept]
- Thyroid stimulating hormone deficiency [ICD-11 Subcategory]
- Thyrotropin deficiency, isolated [MeSH concept]
- hypothyroidism [MeSH Descriptor]
- thyrotropin, biologically inactive [MeSH Supplementary Concept]
- thyrotropin, biologically inactive [MeSH concept]
Broader ORDO disease(s)
- Congenital hypothyroidism [ORDO Disease]
CISMeF manual mappings
- Thyrotropin deficiency, isolated [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Isolated TSH deficiency [ICD-11 More detail]
- Isolated thyroid-stimulating hormone deficiency [ORDO Disease]
- Isolated thyrotropin deficiency (disorder) [SNOMED CT concept]
- congenital nongoitrous hypothyroidism 4 [DO Concept]
- isolated thyrotropin deficiency [SNOMED Notion]
DO Cross reference
- congenital nongoitrous hypothyroidism 4 [DO Concept]
Genes related to phenotype
- Thyroid-stimulating hormone, beta chain [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital hypothyroidism [HPO term]
- Depressed nasal bridge [HPO term]
- Flattened nasal bridge [HPO term]
- Generalized hypotonia [HPO term]
- Hoarse cry [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Macroglossia [HPO term]
- Omphalocele [HPO term]
- Severe growth retardation [HPO term]
- Severe postnatal growth retardation [HPO term]
- Umbilical hernia [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Isolated thyroid-stimulating hormone deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Nongoitrous Hypothyroidism [MeSH Supplementary Concept]
- isolated thyrotropin deficiency [SNOMED Notion]
- pituitary hypothyroidism [SNOMED Notion]
Validated automatic mappings to NTBT
- Congenital Nongoitrous Hypothyroidism [MeSH Supplementary Concept]

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