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719138006: X-linked intellectual disability with cubitus valgus and dysmorphism 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
3315139012 X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315140014 X-linked intellectual disability with cubitus valgus and dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401962011 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401963018 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple naevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315139012 X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315140014 X-linked intellectual disability with cubitus valgus and dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315141013 This syndrome has characteristics of moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3777421017 This syndrome has characteristics of moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple naevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401962011 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401963018 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple naevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439921001000117 X-chromosomale Intelligenzminderung-Cubitus valgus-Dysmorphie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3439921001000117 X-chromosomale Intelligenzminderung-Cubitus valgus-Dysmorphie-Syndrom 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
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a Congenital cubitus valgus true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a Congenital malrotation of limb false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a Congenital anomaly of joint true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Associated morphology Congenital valgus deformity false Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Finding site Elbow joint structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Finding site Elbow joint structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Associated morphology Valgus deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a Elbow joint deformity true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a Arthropathy of elbow (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a Congenital deformity of musculoskeletal system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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