720955004: Fine Lubinsky syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Fine Lubinsky syndrome
\Deformity\Deformity of bone\Brachycephaly\Fine Lubinsky syndrome

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Fine Lubinsky syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome

\Skull finding\Disorder of skull\...

\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome

\Brachycephaly\Fine Lubinsky syndrome

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome
\Disorder of head\Disorder of skull\Brachycephaly\Fine Lubinsky syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Fine Lubinsky syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Fine Lubinsky syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Fine Lubinsky syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Fine Lubinsky syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Fine Lubinsky syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Fine Lubinsky syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Fine Lubinsky syndrome

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome
\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Brachycephaly\Fine Lubinsky syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Brachycephaly\Fine Lubinsky syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Brachycephaly\Fine Lubinsky syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Fine Lubinsky syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Deformity of bone\Brachycephaly\Fine Lubinsky syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Brachycephaly\Fine Lubinsky syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fine Lubinsky syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Fine Lubinsky syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fine Lubinsky syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fine Lubinsky syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fine Lubinsky syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Fine Lubinsky syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Fine Lubinsky syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Fine Lubinsky syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Fine Lubinsky syndrome
\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\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Deformity of bone\Brachycephaly\Fine Lubinsky syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Brachycephaly\Fine Lubinsky syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome
\Disease\Disorder of head\Disorder of skull\Brachycephaly\Fine Lubinsky syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Fine Lubinsky syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Fine Lubinsky syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Fine Lubinsky syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Fine Lubinsky syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3322633019 Fine Lubinsky syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3322634013 Brachycephaly, deafness, cataract, intellectual disability syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3322635014 Fine Lubinsky syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fine Lubinsky syndrome	Is a	Brachycephaly	true	Inferred relationship	Existential restriction modifier
Fine Lubinsky syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Fine Lubinsky syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Fine Lubinsky syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Fine Lubinsky syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Fine Lubinsky syndrome	Is a	Skull congenital deformities	false	Inferred relationship	Existential restriction modifier
Fine Lubinsky syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Fine Lubinsky syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Fine Lubinsky syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Fine Lubinsky syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	3
Fine Lubinsky syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Fine Lubinsky syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Fine Lubinsky syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	4
Fine Lubinsky syndrome	Associated morphology	Congenital deformity	false	Inferred relationship	Existential restriction modifier	5
Fine Lubinsky syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Fine Lubinsky syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier	5
Fine Lubinsky syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Fine Lubinsky syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Fine Lubinsky syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Fine Lubinsky syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Fine Lubinsky syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Fine Lubinsky syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Fine Lubinsky syndrome	Finding site	Bone structure of cranium	true	Inferred relationship	Existential restriction modifier	2
Fine Lubinsky syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Fine Lubinsky syndrome	Associated morphology	Deformity	true	Inferred relationship	Existential restriction modifier	2
Fine Lubinsky syndrome	Is a	Congenital deformity	true	Inferred relationship	Existential restriction modifier
Fine Lubinsky syndrome	Is a	Congenital anomaly of skull	false	Inferred relationship	Existential restriction modifier
Fine Lubinsky syndrome	Is a	Congenital abnormality of skull shape	true	Inferred relationship	Existential restriction modifier
Fine Lubinsky syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	3
Fine Lubinsky syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	4
Fine Lubinsky syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier
Fine Lubinsky syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Fine Lubinsky syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
Fine Lubinsky syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Fine Lubinsky syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
Fine Lubinsky syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3322633019	Fine Lubinsky syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3322634013	Brachycephaly, deafness, cataract, intellectual disability syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3322635014	Fine Lubinsky syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module