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699297004: Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2983700013 Ohdo syndrome, Maat-Kievit-Brunner type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2983702017 Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983727012 X-linked Ohdo syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643148017 Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3643149013 Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5805431000241113 BMRS (blepharophimosis and mental retardation syndrome) de type Maat-Kievit-Brunner fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5805441000241115 syndrome de blépharophimosis et déficience intellectuelle de type Maat-Kievit-Brunner fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
599831000274113 BMRS vom Typ Maat-Kievit-Brunner de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3417821001000111 Blepharophimose-Intelligenzminderung-Syndrom Typ MKB 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
Ohdo syndrome, Maat-Kievit-Brunner type Is a A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. false Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Is a Hereditary disorder of the visual system true Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Is a Digestive system hereditary disorder false Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Is a X-linked hereditary disease true Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Is a Cardiovascular system hereditary disorder false Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Occurrence Congenital false Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Tooth structure false Inferred relationship Some 4
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology anomalie congénitale false Inferred relationship Some 6
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Heart structure false Inferred relationship Some 6
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology Narrowed structure (morphologic abnormality) false Inferred relationship Some 5
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Structure of palpebral fissure (body structure) false Inferred relationship Some 5
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology anomalie congénitale false Inferred relationship Some 7
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Eyelid structure false Inferred relationship Some 7
Ohdo syndrome, Maat-Kievit-Brunner type Occurrence Congenital false Inferred relationship Some 1
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology anomalie du développement false Inferred relationship Some 1
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Eyelid structure false Inferred relationship Some 1
Ohdo syndrome, Maat-Kievit-Brunner type Occurrence Congenital true Inferred relationship Some 2
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology anomalie du développement false Inferred relationship Some 2
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Heart structure false Inferred relationship Some 2
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Heart structure false Inferred relationship Some 1
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Eyelid structure true Inferred relationship Some 2
Ohdo syndrome, Maat-Kievit-Brunner type Occurrence Congenital true Inferred relationship Some 3
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology Narrowed structure (morphologic abnormality) true Inferred relationship Some 3
Ohdo syndrome, Maat-Kievit-Brunner type Finding site Structure of palpebral fissure (body structure) true Inferred relationship Some 3
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
Ohdo syndrome, Maat-Kievit-Brunner type Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Ohdo syndrome, Maat-Kievit-Brunner type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ohdo syndrome, Maat-Kievit-Brunner type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology Deformity true Inferred relationship Some 2
Ohdo syndrome, Maat-Kievit-Brunner type Is a Blepharophimosis, intellectual disability syndrome (disorder) true Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Is a Developmental hereditary disorder true Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Interprets Intellectual ability true Inferred relationship Some 1
Ohdo syndrome, Maat-Kievit-Brunner type Has interpretation Impaired true Inferred relationship Some 1
Ohdo syndrome, Maat-Kievit-Brunner type Interprets Adaptation behavior (observable entity) true Inferred relationship Some 4
Ohdo syndrome, Maat-Kievit-Brunner type 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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