57917004: Seckel syndrome (disorder)

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

\Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Seckel syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Seckel syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Seckel syndrome

\Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Primordial dwarfism\Seckel syndrome
\Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Seckel syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Primordial dwarfism\Seckel syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Seckel syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Seckel syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Seckel syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Seckel syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Seckel syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Seckel syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Seckel syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Seckel syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Seckel syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Seckel syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Seckel syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Seckel syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Seckel syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Seckel syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Seckel syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Seckel syndrome
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Seckel syndrome
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Seckel syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Seckel syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Seckel syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Seckel syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Seckel syndrome
\Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Primordial dwarfism\Seckel syndrome

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Seckel syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Is a	Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Is a	Disorder of brain	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Seckel syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Finding site	Head structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Seckel syndrome	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Seckel syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Seckel syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Seckel syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Seckel syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Seckel syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Seckel syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Seckel syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Seckel syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Seckel syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Seckel syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Seckel syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Seckel syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Seckel syndrome	Is a	Primordial dwarfism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Seckel syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Seckel syndrome	Finding site	Head structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Seckel syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Seckel syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Seckel syndrome	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Seckel syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Seckel syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Seckel syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Seckel syndrome	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Seckel syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Seckel syndrome	Finding site	Head structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Seckel syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Seckel syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Seckel syndrome	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Is a	microcéphalie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Seckel syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Seckel syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Seckel syndrome	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Is a	Skeletal dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Seckel syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Seckel syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Seckel syndrome	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Seckel syndrome	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Seckel syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Seckel syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Seckel syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Seckel syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Seckel syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Seckel syndrome	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

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Active

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Characteristic

Refinability

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Reference Sets

Description inactivation indicator reference set

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US English

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Id	Description	Lang	Type	Status	Case?	Module
96285014	Seckel syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
96286010	Bird-headed dwarf of Seckel	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
96287018	Nanocephalic dwarf	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
96288011	Bird-headed dwarf	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
796592012	Seckel syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
96285014	Seckel syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
96286010	Bird-headed dwarf of Seckel	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
96287018	Nanocephalic dwarf	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
96287018	Nanocephalic dwarf	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
96288011	Bird-headed dwarf	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
96288011	Bird-headed dwarf	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
796592012	Seckel syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
796592012	Seckel syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3449961001000112	Seckel-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
275901000077113	nanisme à tête d'oiseau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
946251000172118	syndrome de Seckel	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
275901000077113	nanisme à tête d'oiseau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
946251000172118	syndrome de Seckel	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3449961001000112	Seckel-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module