Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3321015014 | Anonychia with microcephaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3321016010 | Anonychia with microcephaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3321017018 | Teebi Kaurah syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402357016 | A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402358014 | A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3321015014 | Anonychia with microcephaly syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3321015014 | Anonychia with microcephaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3321016010 | Anonychia with microcephaly syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3321016010 | Anonychia with microcephaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3321017018 | Teebi Kaurah syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3321018011 | A multiple congenital anomaly disorder with characteristics of anonychia congenita totalis and microcephaly, with normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and spaced teeth. Inheritance is likely to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402357016 | A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402358014 | A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3449811001000117 | Anonychie-Mikrozephalie-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6046341000241112 | anonychie avec syndrome de microcéphalie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6046341000241112 | anonychie avec syndrome de microcéphalie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3449811001000117 | Anonychie-Mikrozephalie-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Is a | microcéphalie | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Is a | Anonychia | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Is a | Congenital anomaly of brain | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Is a | Multiple system malformation syndrome | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Is a | Hereditary disorder of the integument (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Is a | Hereditary disorder of nervous system (disorder) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Associated morphology | Congenital smallness | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Finding site | Brain structure | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Finding site | Nail structure | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Associated morphology | Congenital smallness | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Finding site | Brain structure | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Finding site | Nail unit structure (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Is a | Genetic disorder of nail (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Finding site | Head structure (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Interprets | Birth head circumference | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)