Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3424260016 | Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424261017 | Macrocephaly, alopecia, cutis laxa, scoliosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424262012 | MACS syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424263019 | MACS (macrocephaly, alopecia, cutis laxa, scoliosis) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424264013 | RIN2 deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424265014 | Tall forehead, sparse hair, skin hyperextensibility, scoliosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424266010 | A very rare inherited connective tissue disorder with characteristics of macrocephaly, sparse scalp hair, soft redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rare manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Caused by homozygous mutation in the RIN2 gene on chromosome 20p11. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Is a | Inherited cutis laxa (disorder) | false | Inferred relationship | Some | ||
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Is a | Congenital connective tissue disorder | false | Inferred relationship | Some | ||
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 2 | |
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Finding site | Connective tissue structure | false | Inferred relationship | Some | 2 | |
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Finding site | Connective tissue structure | true | Inferred relationship | Some | 1 | |
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Is a | Cutis laxa, autosomal recessive | true | Inferred relationship | Some | ||
| Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) | Is a | Congenital anomaly of skin | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR