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

1287378005: Depression deformity (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Sep 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5257936017 Depression deformity (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5258244013 Depression deformity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Depression deformity (morphologic abnormality) Is a Deformity true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital pectus excavatum (disorder) Associated morphology True Depression deformity (morphologic abnormality) Inferred relationship Some 1
Acquired pectus excavatum (disorder) Associated morphology True Depression deformity (morphologic abnormality) Inferred relationship Some 1
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. Associated morphology True Depression deformity (morphologic abnormality) Inferred relationship Some 1
A rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces. Associated morphology True Depression deformity (morphologic abnormality) Inferred relationship Some 2
Pectus excavatum (disorder) Associated morphology True Depression deformity (morphologic abnormality) Inferred relationship Some 1

This concept is not in any reference sets

Back to Start