Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5239378018 | Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5239379014 | Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5239380012 | Lysine methyltransferase 2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5239381011 | KMT2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5239382016 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development and short stature. Developmental delay/intellectual disabilities are variably reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Is a | Congenital anomaly of ear with impairment of hearing | true | Inferred relationship | Some | ||
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Is a | Ear, face and neck congenital anomalies | true | Inferred relationship | Some | ||
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Is a | Choanal atresia | true | Inferred relationship | Some | ||
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Is a | Congenital abnormality of nipple | true | Inferred relationship | Some | ||
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Is a | Congenital abnormality of external ear | true | Inferred relationship | Some | ||
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Is a | Congenital anomaly of the thyroid gland | true | Inferred relationship | Some | ||
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Is a | Developmental malformation of branchial arch (disorder) | true | Inferred relationship | Some | ||
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 6 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 6 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Finding site | Nipple structure | true | Inferred relationship | Some | 1 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Finding site | External ear structure | true | Inferred relationship | Some | 2 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Finding site | Branchial arch structure | true | Inferred relationship | Some | 3 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Finding site | Thyroid structure | true | Inferred relationship | Some | 4 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Finding site | Structure of choana (body structure) | true | Inferred relationship | Some | 5 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Associated morphology | Congenital atresia | true | Inferred relationship | Some | 5 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR