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716096005: Hypospadias and intellectual disability syndrome Goldblatt type (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
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
5401220011 A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by 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
5401221010 A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterised by 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
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
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
5401220011 A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by 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
5401221010 A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterised by 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
3445871001000113 Hypospadie - Intelligenzminderung, Typ Goldblatt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
877871000172117 syndrome de Goldblatt-Wallis fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1009981000172110 syndrome d'hypospadias-déficience intellectuelle type Goldblatt fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
877871000172117 syndrome de Goldblatt-Wallis fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1009981000172110 syndrome d'hypospadias-déficience intellectuelle type Goldblatt fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3445871001000113 Hypospadie - Intelligenzminderung, Typ Goldblatt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Goldblatt Wallis syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Goldblatt Wallis syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Goldblatt Wallis syndrome Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Goldblatt Wallis syndrome Is a Hereditary disorder of the urinary system true Inferred relationship Existential restriction modifier (core metadata concept)
Goldblatt Wallis syndrome Is a Hypospadias (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Goldblatt Wallis syndrome Associated morphology Congenital malposition false Inferred relationship Existential restriction modifier (core metadata concept) 2
Goldblatt Wallis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Goldblatt Wallis syndrome Finding site Structure of urethral meatus false Inferred relationship Existential restriction modifier (core metadata concept) 2
Goldblatt Wallis syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Goldblatt Wallis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Goldblatt Wallis syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Goldblatt Wallis syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Goldblatt Wallis syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Goldblatt Wallis syndrome Associated morphology Congenital malposition false Inferred relationship Existential restriction modifier (core metadata concept) 1
Goldblatt Wallis syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Goldblatt Wallis syndrome Finding site Structure of urethral meatus true Inferred relationship Existential restriction modifier (core metadata concept) 1
Goldblatt Wallis syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Goldblatt Wallis syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Goldblatt Wallis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Goldblatt Wallis syndrome Associated morphology Malposition (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Goldblatt Wallis syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Goldblatt Wallis syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Goldblatt Wallis syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Goldblatt Wallis syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 4
Goldblatt Wallis syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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