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778009001: Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3736404010 Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736405011 Blepharophimosis, intellectual disability syndrome, Verloes type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736406012 Blepharophimosis, intellectual disability syndrome type V en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736407015 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736404010 Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736405011 Blepharophimosis, intellectual disability syndrome, Verloes type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736406012 Blepharophimosis, intellectual disability syndrome type V en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736407015 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
545621000274116 Blepharophimose-Intelligenzminderung-Syndrom, Typ V de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
575291000274115 Blepharophimose-Intelligenzminderung-Syndrom, Typ Verloes de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
932531000172111 syndrome de blépharophimosis-déficience intellectuelle type Verloes fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
962451000172112 BMRS type V fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
932531000172111 syndrome de blépharophimosis-déficience intellectuelle type Verloes fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
962451000172112 BMRS type V fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
545621000274116 Blepharophimose-Intelligenzminderung-Syndrom, Typ V de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
575291000274115 Blepharophimose-Intelligenzminderung-Syndrom, Typ Verloes de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3397611001000112 Blepharophimose- Intelligenzminderung-Syndrom, Typ Verloes 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
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Associated morphology Narrowed structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Congenital blepharophimosis false Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Intelligenzminderung false Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Finding site Structure of palpebral fissure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Congenital anomaly of eyelid false Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Narrowing of palpebral fissure (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Blepharophimosis, intellectual disability syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Finding site Eyelid structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Associated morphology Deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 4
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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