Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3725573015 | Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725574014 | Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725575010 | Hypogonadotropic hypogonadism, severe microcephaly, sensorineural deafness, dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725576011 | A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 5 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Is a | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Finding site | Ear structure | true | Inferred relationship | Some | 4 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Is a | Congenital hypogonadotropic hypogonadism (disorder) | true | Inferred relationship | Some | ||
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Finding site | Structure of pars distalis of pituitary (body structure) | true | Inferred relationship | Some | 2 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Is a | Microcephalus | false | Inferred relationship | Some | ||
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 6 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Is a | Disorder of ear | true | Inferred relationship | Some | ||
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 7 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 8 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 8 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 7 | |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR