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42432003: Oto-palato-digital syndrome, type II (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
70799013 Oto-palato-digital syndrome, type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
493313018 Otopalatodigital syndrome type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
779331014 Oto-palato-digital syndrome, type II (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3330775013 A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
70799013 Oto-palato-digital syndrome, type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
493313018 Otopalatodigital syndrome type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
493313018 Otopalatodigital syndrome type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
493314012 OPD - Otopalatodigital syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
493315013 Otopalatodigital syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
493315013 Otopalatodigital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
779331014 Oto-palato-digital syndrome, type II (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3330775013 A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3417861001000115 Oto-palato-digitales Syndrom Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
933261000172111 syndrome OPD (oto-palato-digital) 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
955461000172112 syndrome oto-palato-digital type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
933261000172111 syndrome OPD (oto-palato-digital) 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
955461000172112 syndrome oto-palato-digital type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3417861001000115 Oto-palato-digitales Syndrom Typ 2 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
Oto-palato-digital syndrome, type II Is a Atelosteogenesis false Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Is a Multiple malformation syndrome with facial-limb defects as major feature false Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Finding site Skeletal system structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Oto-palato-digital syndrome, type II Finding site Musculoskeletal structure of limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oto-palato-digital syndrome, type II Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Associated morphology Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Oto-palato-digital syndrome, type II Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Oto-palato-digital syndrome, type II Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Oto-palato-digital syndrome, type II Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 3
Oto-palato-digital syndrome, type II Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 2
Oto-palato-digital syndrome, type II Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 2
Oto-palato-digital syndrome, type II Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Oto-palato-digital syndrome, type II Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oto-palato-digital syndrome, type II Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Oto-palato-digital syndrome, type II Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oto-palato-digital syndrome, type II Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Oto-palato-digital syndrome, type II Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oto-palato-digital syndrome, type II Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Oto-palato-digital syndrome, type II Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Oto-palato-digital syndrome, type II Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Oto-palato-digital syndrome, type II Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Oto-palato-digital syndrome, type II Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Oto-palato-digital syndrome, type II Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Oto-palato-digital syndrome, type II Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Oto-palato-digital syndrome, type II Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oto-palato-digital syndrome, type II Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Is a Osteodysplasia false Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oto-palato-digital syndrome, type II Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Oto-palato-digital syndrome, type II Finding site Palatal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Oto-palato-digital syndrome, type II Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Oto-palato-digital syndrome, type II Is a Otopalatodigital syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oto-palato-digital syndrome, type II Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oto-palato-digital syndrome, type II Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oto-palato-digital syndrome, type II Finding site Palatal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oto-palato-digital syndrome, type II Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oto-palato-digital syndrome, type II Finding site Ear structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oto-palato-digital syndrome, type II Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oto-palato-digital syndrome, type II Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Oto-palato-digital syndrome, type II Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oto-palato-digital syndrome, type II Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Oto-palato-digital syndrome, type II Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oto-palato-digital syndrome, type II Is a Congenital anomaly of palate false Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Is a Congenital anomaly of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Is a A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. true Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Is a Disorder of ear true Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Is a Congenital anomaly of face (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Is a Cleft palate true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Oto-palato-digital syndrome, type I Is a False Oto-palato-digital syndrome, type II Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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