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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Oto-palato-digital syndrome, type II

\Finding of head and neck region\Head finding (finding)\Finding of head region\Orofacial cleft (disorder)\Cleft palate\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding (finding)\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Oto-palato-digital syndrome, type II

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type II
\Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Oto-palato-digital syndrome, type II
\Ear and auditory finding (finding)\Ear finding\Disorder of ear\Oto-palato-digital syndrome, type II

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II

\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Oto-palato-digital syndrome, type II
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type II
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type II
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type II
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Oto-palato-digital syndrome, type II
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Disease\Ear, nose and throat disorder\Disorder of ear\Oto-palato-digital syndrome, type II
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Oto-palato-digital syndrome, type II
\Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Oto-palato-digital syndrome, type II
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Oto-palato-digital syndrome, type II
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Oto-palato-digital syndrome, type II
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
\Disease\Disorder of head (disorder)\Disorder of ear\Oto-palato-digital syndrome, type II
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Oto-palato-digital syndrome, type II
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Oto-palato-digital syndrome, type II
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Oto-palato-digital syndrome, type II
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Disease\Developmental disorder\Developmental hereditary disorder\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Oto-palato-digital syndrome, type II
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Oto-palato-digital syndrome, type II
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Oto-palato-digital syndrome, type II

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

2023421000052118 oto-palato-digitalt syndrom, typ 2 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oto-palato-digital syndrome, type II	Is a	Atelosteogenesis	false	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Is a	Multiple malformation syndrome with facial-limb defects as major feature	false	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Oto-palato-digital syndrome, type II	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Finding site	Bone structure	true	Inferred relationship	Some	3
Oto-palato-digital syndrome, type II	Occurrence	Congenital	false	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Oto-palato-digital syndrome, type II	Finding site	Limb structure	false	Inferred relationship	Some	2
Oto-palato-digital syndrome, type II	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	3
Oto-palato-digital syndrome, type II	Associated morphology	kongenital anomali	false	Inferred relationship	Some	3
Oto-palato-digital syndrome, type II	Associated morphology	medfödd missbildning	false	Inferred relationship	Some	2
Oto-palato-digital syndrome, type II	Associated morphology	medfödd missbildning	false	Inferred relationship	Some	2
Oto-palato-digital syndrome, type II	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	3
Oto-palato-digital syndrome, type II	Finding site	Limb structure	true	Inferred relationship	Some	2
Oto-palato-digital syndrome, type II	Finding site	Bone structure	false	Inferred relationship	Some	3
Oto-palato-digital syndrome, type II	Occurrence	Congenital	true	Inferred relationship	Some	1
Oto-palato-digital syndrome, type II	Finding site	Bone structure	false	Inferred relationship	Some	1
Oto-palato-digital syndrome, type II	Occurrence	Congenital	true	Inferred relationship	Some	4
Oto-palato-digital syndrome, type II	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	4
Oto-palato-digital syndrome, type II	Finding site	Face structure	false	Inferred relationship	Some	4
Oto-palato-digital syndrome, type II	Occurrence	Congenital	true	Inferred relationship	Some	5
Oto-palato-digital syndrome, type II	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Oto-palato-digital syndrome, type II	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	5
Oto-palato-digital syndrome, type II	Finding site	Face structure	true	Inferred relationship	Some	5
Oto-palato-digital syndrome, type II	Finding site	Limb structure	false	Inferred relationship	Some	5
Oto-palato-digital syndrome, type II	Occurrence	Congenital	true	Inferred relationship	Some	3
Oto-palato-digital syndrome, type II	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Is a	osteodysplasi	false	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Occurrence	Congenital	true	Inferred relationship	Some	2
Oto-palato-digital syndrome, type II	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	2
Oto-palato-digital syndrome, type II	Finding site	Palatal structure	false	Inferred relationship	Some	2
Oto-palato-digital syndrome, type II	Finding site	Ear structure	false	Inferred relationship	Some	3
Oto-palato-digital syndrome, type II	Is a	oto-palato-digitalt syndrom	false	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Oto-palato-digital syndrome, type II	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Oto-palato-digital syndrome, type II	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Oto-palato-digital syndrome, type II	Finding site	Palatal structure	true	Inferred relationship	Some	1
Oto-palato-digital syndrome, type II	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Oto-palato-digital syndrome, type II	Finding site	Ear structure	true	Inferred relationship	Some	4
Oto-palato-digital syndrome, type II	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Oto-palato-digital syndrome, type II	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Oto-palato-digital syndrome, type II	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Oto-palato-digital syndrome, type II	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	5
Oto-palato-digital syndrome, type II	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Oto-palato-digital syndrome, type II	Is a	Congenital anomaly of palate	false	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Is a	Otopalatodigital syndrome spectrum disorder	true	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Is a	Disorder of ear	true	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Is a	Congenital anomaly of face (disorder)	true	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Is a	Cleft palate	true	Inferred relationship	Some

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	Some

This concept is not in any reference sets

Back to Start

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
2023421000052118	oto-palato-digitalt syndrom, typ 2	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)