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 |
| 5400744018 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by 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 disability are variably reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400745017 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by 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 disability 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 | false | 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 | |
| Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Associated morphology | Atresia (morphologic abnormality) | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR