723309006: Endocrine-cerebro-osteodysplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Endocrine-cerebro-osteodysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Endocrine-cerebro-osteodysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Endocrine-cerebro-osteodysplasia syndrome

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

\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Endocrine-cerebro-osteodysplasia syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Endocrine-cerebro-osteodysplasia syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Endocrine-cerebro-osteodysplasia syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Endocrine-cerebro-osteodysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Endocrine-cerebro-osteodysplasia 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\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Endocrine-cerebro-osteodysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Endocrine-cerebro-osteodysplasia syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3424008018 Endocrine-cerebro-osteodysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3424009014 Endocrine-cerebro-osteodysplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3424010016 ECO syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3424011017 ECO (endocrine-cerebro-osteodysplasia) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3424012012 Endocrine cerebroosteodysplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Endocrine-cerebro-osteodysplasia syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Endocrine-cerebro-osteodysplasia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Endocrine-cerebro-osteodysplasia syndrome	Is a	Dysostosis	true	Inferred relationship	Existential restriction modifier
Endocrine-cerebro-osteodysplasia syndrome	Is a	Anomalies of cerebrum	false	Inferred relationship	Existential restriction modifier
Endocrine-cerebro-osteodysplasia syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Endocrine-cerebro-osteodysplasia syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Existential restriction modifier
Endocrine-cerebro-osteodysplasia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Endocrine-cerebro-osteodysplasia syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Endocrine-cerebro-osteodysplasia syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Endocrine-cerebro-osteodysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Endocrine-cerebro-osteodysplasia syndrome	Finding site	Structure of endocrine system	false	Inferred relationship	Existential restriction modifier	4
Endocrine-cerebro-osteodysplasia syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Endocrine-cerebro-osteodysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Endocrine-cerebro-osteodysplasia syndrome	Finding site	Structure of cerebrum	false	Inferred relationship	Existential restriction modifier	5
Endocrine-cerebro-osteodysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	6
Endocrine-cerebro-osteodysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Endocrine-cerebro-osteodysplasia syndrome	Finding site	Bone structure of extremity	false	Inferred relationship	Existential restriction modifier	6
Endocrine-cerebro-osteodysplasia syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	7
Endocrine-cerebro-osteodysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Endocrine-cerebro-osteodysplasia syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	7
Endocrine-cerebro-osteodysplasia syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	4
Endocrine-cerebro-osteodysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Endocrine-cerebro-osteodysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Endocrine-cerebro-osteodysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Endocrine-cerebro-osteodysplasia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Endocrine-cerebro-osteodysplasia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Endocrine-cerebro-osteodysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Endocrine-cerebro-osteodysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Endocrine-cerebro-osteodysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Endocrine-cerebro-osteodysplasia syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	1
Endocrine-cerebro-osteodysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Endocrine-cerebro-osteodysplasia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Endocrine-cerebro-osteodysplasia syndrome	Finding site	Structure of endocrine system	true	Inferred relationship	Existential restriction modifier	2
Endocrine-cerebro-osteodysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Endocrine-cerebro-osteodysplasia syndrome	Finding site	Bone structure of extremity	true	Inferred relationship	Existential restriction modifier	3
Endocrine-cerebro-osteodysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	3
Endocrine-cerebro-osteodysplasia syndrome	Is a	Congenital anomaly of cerebrum	true	Inferred relationship	Existential restriction modifier
Endocrine-cerebro-osteodysplasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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
3424008018	Endocrine-cerebro-osteodysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3424009014	Endocrine-cerebro-osteodysplasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3424010016	ECO syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3424011017	ECO (endocrine-cerebro-osteodysplasia) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3424012012	Endocrine cerebroosteodysplasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module