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 |
| 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 | Inactive | 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408479018 | A rare, genetic, polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), developmental delay, hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy, ectodermal anomalies, and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408480015 | A rare, genetic, polymalformative syndrome characterised by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukaemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), developmental delay, hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy, ectodermal anomalies, and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects but may occasionally be severe. Leukaemia can be the only clinical manifestation of the syndrome. | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR