FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

778009001: syndroom van blefarofimose en verstandelijke beperking Verloes-type (aandoening)


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
6834271000146117 syndroom van blefarofimose en mentale retardatie type V nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6910581000146110 BMRS type V nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6910591000146112 BMRS Verloes-type nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7717271000146119 syndroom van blefarofimose en verstandelijke beperking Verloes-type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7717281000146117 syndroom van blefarofimose en verstandelijke beperking Verloes-type (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


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 Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Associated morphology Narrowed structure (morphologic abnormality) true Inferred relationship Some 1
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Congenital blepharophimosis false Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Intellectual disability false Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Occurrence Congenital true Inferred relationship Some 1
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Finding site Structure of palpebral fissure true Inferred relationship Some 1
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Congenital structural abnormality of eyelid false Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Narrowing of palpebral fissure (disorder) false Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Blepharophimosis, intellectual disability syndrome (disorder) true Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Finding site Eyelid structure true Inferred relationship Some 2
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Occurrence Congenital true Inferred relationship Some 2
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Associated morphology Deformity true Inferred relationship Some 2
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 3
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Has interpretation Impaired true Inferred relationship Some 3
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 4
Blepharophimosis, intellectual disability syndrome, Verloes 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

Back to Start