FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

201281002: Café au lait spot (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
309218018 Cafe-au-lait spots en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2535870018 Café au lait spots en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2820113018 Café au lait spot (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2820114012 Café au lait spot en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2920947015 Cafe au lait spots en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
922451000195111 macchia caffelatte it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393424013 tache café au lait fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
645601000172111 taches café-au-lait fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
425811000274115 Cafe-au-lait-Fleck de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Café au lait spots Is a Café au lait spots false Inferred relationship Some
Café au lait spots Finding site Structure of skin region false Inferred relationship Some
Café au lait spots Associated morphology Pigment deposition false Inferred relationship Some 1
Café au lait spots Finding site Skin structure false Inferred relationship Some 1
Café au lait spots Is a Disorder of skin pigmentation (disorder) true Inferred relationship Some
Café au lait spots Associated morphology Pigment alteration false Inferred relationship Some 1
Café au lait spots Finding site Skin structure true Inferred relationship Some 1
Café au lait spots Associated morphology Pigment alteration true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Legius syndrome Is a True Café au lait spots Inferred relationship Some
McCune Albright syndrome (disorder) Is a True Café au lait spots Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984. Is a True Café au lait spots Inferred relationship Some
Café-au-lait spots and ring chromosome 11 Is a False Café au lait spots Inferred relationship Some
A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent. Is a True Café au lait spots Inferred relationship Some
A rare mosaic form of Legius syndrome with findings typical of Legius syndrome, namely multiple cafe-au-lait macules (CALMs) with or without axillary or inguinal freckling. Mosaic form is caused by postzygotic pathogenic variants in SPRED1 gene. In mosaic Legius syndrome the allelic/tissue distribution of the pathogenic SPRED1-variant clearly suggests mosaicism and/or the distribution of CALMs is segmental. The phenotype can be milder than in Legius syndrome. Is a True Café au lait spots Inferred relationship Some

This concept is not in any reference sets

Back to Start