Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3757821010 | Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757822015 | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757823013 | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757824019 | CBL (Cbl proto-oncogene) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 8132021000146119 | syndroom van Noonan-achtige aandoening met JMML | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 14922591000146113 | Noonan-syndroom-achtige aandoening met juveniele myelomonocytaire leukemie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 14922601000146115 | Noonan-syndroom-achtige aandoening met juveniele myelomonocytaire leukemie (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3757825018 | A rare genetic polymalformative syndrome with increased risk of developing cancer, with characteristics of a Noonan-like phenotype, including typical dysmorphic facial features (such as high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent occurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity and hypotonia may also be associated. Caused by heterozygous mutation in the CBL gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757826017 | A rare genetic polymalformative syndrome with increased risk of developing cancer, with characteristics of a Noonan-like phenotype, including typical dysmorphic facial features (such as high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent occurrence of juvenile myelomonocytic leukaemia. Developmental delay, ectodermal anomalies, joint laxity and hypotonia may also be associated. Caused by heterozygous mutation in the CBL gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some | ||
| Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR