54036001: Oto-palato-digital syndrome, type I (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head and neck region\Head finding\Finding of head region\Orofacial cleft\Cleft palate\Oto-palato-digital syndrome, type I
\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 I
\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 I
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
\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 I
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Oto-palato-digital syndrome, type I
\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 I
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Oto-palato-digital syndrome, type I
\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 I
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type I
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Oto-palato-digital syndrome, type I
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Oto-palato-digital syndrome, type I
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
\Ear and auditory finding\Ear finding\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Oto-palato-digital syndrome, type I
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Conductive hearing loss\Oto-palato-digital syndrome, type I

\Functional finding\Hearing finding\Hearing disorder\...

\Congenital hearing disorder\Oto-palato-digital syndrome, type I

\Hearing loss\Conductive hearing loss\Oto-palato-digital syndrome, type I

\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 I
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
\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 I
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
\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 I

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type I
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
\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 I
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type I
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type I
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Oto-palato-digital syndrome, type I
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Oto-palato-digital syndrome, type I
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
\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 I
\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 I
\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 I
\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 I
\Disease\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
\Disease\Disorder of extremity\Congenital anomaly of limb\Oto-palato-digital syndrome, type I
\Disease\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type I
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Oto-palato-digital syndrome, type I
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Oto-palato-digital syndrome, type I
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Oto-palato-digital syndrome, type I
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type I
\Disease\Disorder of head\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Oto-palato-digital syndrome, type I
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Oto-palato-digital syndrome, type I
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type I
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Oto-palato-digital syndrome, type I
\Disease\Congenital disease\Congenital hearing disorder\Oto-palato-digital syndrome, type I
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
\Disease\Developmental disorder\Developmental hereditary disorder\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Oto-palato-digital syndrome, type I
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Oto-palato-digital syndrome, type I
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type I
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Oto-palato-digital syndrome, type I

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

89817016 Oto-palato-digital syndrome, type I en Synonym Active Only initial character case insensitive SNOMED CT core module

89818014 Taybi syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

792223014 Oto-palato-digital syndrome, type I (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 I	Is a	Oto-palato-digital syndrome, type II	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type I	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type I	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type I	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Oto-palato-digital syndrome, type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type I	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type I	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type I	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type I	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type I	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type I	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Oto-palato-digital syndrome, type I	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Oto-palato-digital syndrome, type I	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Oto-palato-digital syndrome, type I	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Oto-palato-digital syndrome, type I	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	4
Oto-palato-digital syndrome, type I	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Oto-palato-digital syndrome, type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Oto-palato-digital syndrome, type I	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Oto-palato-digital syndrome, type I	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier	5
Oto-palato-digital syndrome, type I	Is a	Multiple malformation syndrome with facial-limb defects as major feature	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Is a	Osteodysplasia	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type I	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type I	Is a	Otopalatodigital syndrome	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Finding site	Palatal structure	false	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type I	Finding site	Ear structure	true	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type I	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type I	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	1
Oto-palato-digital syndrome, type I	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Oto-palato-digital syndrome, type I	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Oto-palato-digital syndrome, type I	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5
Oto-palato-digital syndrome, type I	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type I	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Oto-palato-digital syndrome, type I	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	5
Oto-palato-digital syndrome, type I	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type I	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Existential restriction modifier	3
Oto-palato-digital syndrome, type I	Finding site	Palatal structure	true	Inferred relationship	Existential restriction modifier	3
Oto-palato-digital syndrome, type I	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type I	Is a	Congenital anomaly of palate	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Is a	Congenital anomaly of limb	true	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Is a	Otopalatodigital syndrome spectrum disorder	true	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Is a	Disorder of ear	false	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Is a	Congenital anomaly of face	true	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	6
Oto-palato-digital syndrome, type I	Is a	Conductive hearing loss	true	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Is a	Congenital hearing disorder	true	Inferred relationship	Existential restriction modifier
Oto-palato-digital syndrome, type I	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6
Oto-palato-digital syndrome, type I	Is a	Cleft palate	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
89817016	Oto-palato-digital syndrome, type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
89818014	Taybi syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
792223014	Oto-palato-digital syndrome, type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module