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716334004: Intellectual disability and short stature with hand contracture and genital anomaly 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 Reference Sets
3302591018 Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3302592013 Intellectual disability and short stature with hand contracture and genital anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3302593015 Urban Rogers Meyer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3305544015 Prader Willi habitus with osteopenia and camptodactyly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3305545019 This syndrome has characteristics of intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Is a mental retardering false Inferred relationship Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Is a Congenital malformation of genital organs (disorder) true Inferred relationship Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Is a Reproductive system hereditary disorder true Inferred relationship Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some 1
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Finding site Genital structure true Inferred relationship Some 1
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Is a Intellectual disability (disorder) true Inferred relationship Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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