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412787009: Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2474343011 Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2478440016 Ohdo blepharophimosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643123015 Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643126011 Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3782737012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
2468240019 Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2468240019 Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2474343011 Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2474343011 Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2478440016 Ohdo blepharophimosis syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2478440016 Ohdo blepharophimosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643123015 Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643126011 Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3782737012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
651131000274118 Blepharophimose-Intelligenzminderung-Syndrom Typ Ohdo de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3432631001000118 Ohdo-Blepharophimose-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6004711000241111 syndrome d'Ohdo fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6004721000241116 syndrome de déficience intellectuelle, d'anomalie cardiaque congéntiale, de blepharophimosis, de blépharoptose et d'hypoplasie dentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6004711000241111 syndrome d'Ohdo fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6004721000241116 syndrome de déficience intellectuelle, d'anomalie cardiaque congéntiale, de blepharophimosis, de blépharoptose et d'hypoplasie dentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
651131000274118 Blepharophimose-Intelligenzminderung-Syndrom Typ Ohdo de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3432631001000118 Ohdo-Blepharophimose-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
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Is a Congenital heart disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Is a Disorder of tooth development (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Is a Congenital blepharophimosis false Inferred relationship Existential restriction modifier (core metadata concept)
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Narrowed structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Structure of orbit proper false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Eyelid structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Structure of palpebral fissure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 3
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 4
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Heart structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 4
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Eyelid structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Heart structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Narrowed structure (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Structure of palpebral fissure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Is a Intelligenzminderung false Inferred relationship Existential restriction modifier (core metadata concept)
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Finding site Heart structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Is a Blepharophimosis, intellectual disability syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Is a Congenital anomaly of tooth (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 6
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Inbound Relationships Type Active Source Characteristic Refinability Group
Ohdo syndrome, Maat-Kievit-Brunner type Is a False Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Inferred relationship Existential restriction modifier (core metadata concept)
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Is a False Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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