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

SNOMED CT Concept\Clinical finding\...

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

\Finding of head and neck region\Head finding\Finding of head region\Orofacial cleft\Cleft palate\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding\Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
\Finding of head and neck region\Head finding\Disorder of head\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\Disorder of auditory system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type II
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Oto-palato-digital syndrome, type II
\Ear and auditory finding\Ear finding\Disorder of ear\Oto-palato-digital syndrome, type II

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\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\Congenital 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 of bone development\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\Congenital 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\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\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\Congenital 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 of bone development\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\Congenital 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 extremity\Congenital anomaly of limb\Oto-palato-digital syndrome, type II
\Disease\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Oto-palato-digital syndrome, type II
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Oto-palato-digital syndrome, type II
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Oto-palato-digital syndrome, type II
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
\Disease\Disorder of head\Disorder of ear\Oto-palato-digital syndrome, type II
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Oto-palato-digital syndrome, type II
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Oto-palato-digital syndrome, type II
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
\Disease\Congenital disease\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\Congenital malformation\Congenital anomaly of limb\Oto-palato-digital syndrome, type II
\Disease\Developmental disorder\Disorder of bone development\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\Orofacial cleft\Cleft palate\Oto-palato-digital syndrome, type II
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\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\Congenital 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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

70799013 Oto-palato-digital syndrome, type II en Synonym Active Only initial character case insensitive SNOMED CT core module

493313018 Otopalatodigital syndrome type 2 en Synonym Active Entire term case insensitive SNOMED CT core module

779331014 Oto-palato-digital syndrome, type II (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

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
Oto-palato-digital syndrome, type II	Is a	Multiple malformation syndrome with facial-limb defects as major feature	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type II	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type II	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type II	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type II	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	3
Oto-palato-digital syndrome, type II	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type II	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type II	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type II	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Oto-palato-digital syndrome, type II	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Oto-palato-digital syndrome, type II	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type II	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type II	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Oto-palato-digital syndrome, type II	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type II	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Oto-palato-digital syndrome, type II	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type II	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type II	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Oto-palato-digital syndrome, type II	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Oto-palato-digital syndrome, type II	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	4
Oto-palato-digital syndrome, type II	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Oto-palato-digital syndrome, type II	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type II	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Oto-palato-digital syndrome, type II	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	5
Oto-palato-digital syndrome, type II	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	5
Oto-palato-digital syndrome, type II	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Oto-palato-digital syndrome, type II	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type II	Is a	Osteodysplasia	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type II	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type II	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type II	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type II	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type II	Finding site	Palatal structure	false	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type II	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	3
Oto-palato-digital syndrome, type II	Is a	Otopalatodigital syndrome	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type II	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Oto-palato-digital syndrome, type II	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type II	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type II	Finding site	Palatal structure	true	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type II	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type II	Finding site	Ear structure	true	Inferred relationship	Existential restriction modifier	4
Oto-palato-digital syndrome, type II	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type II	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5
Oto-palato-digital syndrome, type II	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Oto-palato-digital syndrome, type II	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	5
Oto-palato-digital syndrome, type II	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	3
Oto-palato-digital syndrome, type II	Is a	Congenital anomaly of palate	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type II	Is a	Congenital anomaly of limb	true	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type II	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type II	Is a	Otopalatodigital syndrome spectrum disorder	true	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type II	Is a	Disorder of ear	true	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type II	Is a	Congenital anomaly of face	true	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type II	Is a	Cleft palate	true	Inferred relationship	Existential restriction modifier

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

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	Active	Only initial character case insensitive	SNOMED CT core module
493313018	Otopalatodigital syndrome type 2	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
779331014	Oto-palato-digital syndrome, type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module