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716198008: Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3305059018 Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305060011 Growth delay with hydrocephalus and lung hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305061010 Game Friedman Paradice syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401263014 Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 siblings so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401264015 Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 siblings so far and characterised by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Is a Developmental disorder false Inferred relationship Some
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Is a Congenital hydrocephalus true Inferred relationship Some
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Is a Congenital hypoplasia of lung true Inferred relationship Some
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 2
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Finding site Lung structure true Inferred relationship Some 2
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Some 3
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Finding site Brain cerebrospinal fluid pathway false Inferred relationship Some 3
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Some 1
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Finding site Brain cerebrospinal fluid pathway true Inferred relationship Some 1
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Associated morphology Dilatation true Inferred relationship Some 1
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) 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)

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