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773768000: Emery Nelson 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\Emery Nelson syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Emery Nelson 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\Multiple malformation syndrome with facial-limb defects as major feature\Emery Nelson syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Emery Nelson syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Emery Nelson syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Emery Nelson syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Emery Nelson 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\Emery Nelson 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\Emery Nelson 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\Emery Nelson 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\Emery Nelson 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\Emery Nelson syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Emery Nelson syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Emery Nelson 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\Emery Nelson 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\Emery Nelson 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\Emery Nelson syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Emery Nelson syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Emery Nelson syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3726286018 Emery Nelson syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3726287010 Emery Nelson syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3726288017 Hand and foot deformity, flat facies syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Emery Nelson syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Emery Nelson syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Emery Nelson syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Emery Nelson syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Emery Nelson syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Emery Nelson syndrome	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Emery Nelson syndrome	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier	1
Emery Nelson syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Emery Nelson syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Emery Nelson syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Emery Nelson syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Emery Nelson syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Emery Nelson syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	3

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
3726286018	Emery Nelson syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3726287010	Emery Nelson syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3726288017	Hand and foot deformity, flat facies syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module