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716096005: syndroom van hypospadie en verstandelijke beperking Goldblatt-type (aandoening)


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
3304715013 Hypospadias and intellectual disability syndrome Goldblatt type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304716014 Hypospadias and intellectual disability syndrome Goldblatt type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304717017 Goldblatt Wallis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6720201000146118 syndroom van hypospadie en mentale retardatie type Goldblatt nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6941261000146115 syndroom van Goldblatt-Wallis nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7858741000146113 syndroom van hypospadie en verstandelijke handicap type Goldblatt nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12689191000146113 syndroom van hypospadie en verstandelijke beperking Goldblatt-type (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12744601000146113 syndroom van hypospadie en verstandelijke beperking Goldblatt-type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3313022010 A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and with features of hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails 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
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Is a mentale retardatie false Inferred relationship Some
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Is a Hereditary disorder of the urinary system true Inferred relationship Some
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Is a Hypospadias (disorder) true Inferred relationship Some
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Associated morphology congenitale afwijkende ligging (afwijkende morfologie) false Inferred relationship Some 2
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Occurrence Congenital true Inferred relationship Some 2
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Finding site Structure of urethral meatus false Inferred relationship Some 2
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Occurrence Congenital false Inferred relationship Some 3
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Finding site Face structure false Inferred relationship Some 3
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Finding site Face structure true Inferred relationship Some 2
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Is a Intellectual disability true Inferred relationship Some
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Associated morphology congenitale afwijkende ligging (afwijkende morfologie) false Inferred relationship Some 1
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Finding site Structure of urethral meatus true Inferred relationship Some 1
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Occurrence Congenital true Inferred relationship Some 1
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Associated morphology Malposition (morphologic abnormality) true Inferred relationship Some 1
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 3
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Has interpretation Impaired true Inferred relationship Some 3
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 4
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Has interpretation Impaired true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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