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719840003: Renal dysplasia with limb defect syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3318121016 Renal dysplasia with limb defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318122011 Renal dysplasia with limb defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318123018 Ulbright Hodes syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318124012 Renal dysplasia, mesomelia, radiohumeral fusion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318125013 Syndrome with characteristics of renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants, all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5096351000172110 syndroom van dysplasie van nier en defect van extremiteit nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
5096361000172112 syndroom van Ulbright-Hodes nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
5096371000172115 syndroom van nierdysplasie en ledemaatdefecten nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
5096381000172117 Ulbright-Hodes-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
5096391000172119 syndroom van renale dysplasie en defect van extremiteit nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Renal dysplasia with limb defect syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Renal dysplasia with limb defect syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Renal dysplasia with limb defect syndrome (disorder) Is a Renal dysplasia true Inferred relationship Some
Renal dysplasia with limb defect syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Renal dysplasia with limb defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Renal dysplasia with limb defect syndrome (disorder) Finding site Limb structure true Inferred relationship Some 3
Renal dysplasia with limb defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Renal dysplasia with limb defect syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Renal dysplasia with limb defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Renal dysplasia with limb defect syndrome (disorder) Finding site Face structure false Inferred relationship Some 5
Renal dysplasia with limb defect syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Renal dysplasia with limb defect syndrome (disorder) Finding site Kidney structure false Inferred relationship Some 3
Renal dysplasia with limb defect syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Renal dysplasia with limb defect syndrome (disorder) Finding site Limb structure false Inferred relationship Some 4
Renal dysplasia with limb defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Renal dysplasia with limb defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Renal dysplasia with limb defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Renal dysplasia with limb defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Renal dysplasia with limb defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Renal dysplasia with limb defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Renal dysplasia with limb defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Renal dysplasia with limb defect syndrome (disorder) Finding site Kidney structure true Inferred relationship Some 1
Renal dysplasia with limb defect syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Renal dysplasia with limb defect syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Renal dysplasia with limb defect syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Renal dysplasia with limb defect syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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