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 |
| 3724056017 | Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3724057014 | Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5444377013 | CTCF-related neurodevelopmental disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3724058016 | A rare genetic syndromic intellectual disability disorder characterised by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioural anomalies (for example autistic behaviour, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3724059012 | A rare genetic syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomalies (for example autistic behavior, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405292019 | A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405293012 | A rare, genetic, neurodevelopmental disorder characterised by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioural anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Is a | Intellectual disability | false | Inferred relationship | Some | ||
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Is a | Microcephalus | false | Inferred relationship | Some | ||
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Interprets | Height / growth measure | false | Inferred relationship | Some | 3 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Interprets | Birth head circumference | true | Inferred relationship | Some | 4 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Is a | Genetic intellectual disability | true | Inferred relationship | Some | ||
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Is a | Neurodevelopmental delay (disorder) | true | Inferred relationship | Some | ||
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Interprets | Body height (observable entity) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR