720574003: Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\Brachytelephalangy, facial dysmorphism, Kallmann syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Brachytelephalangy, facial dysmorphism, Kallmann syndrome
\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Brachytelephalangy, facial dysmorphism, Kallmann syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Brachytelephalangy, facial dysmorphism, Kallmann 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\Brachytelephalangy, facial dysmorphism, Kallmann 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\Brachytelephalangy, facial dysmorphism, Kallmann 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\Brachytelephalangy, facial dysmorphism, Kallmann syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Brachytelephalangy, facial dysmorphism, Kallmann syndrome

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

3321293013 Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3321294019 Brachytelephalangy, facial dysmorphism, Kallmann syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Is a	Congenital anomaly of digit	true	Inferred relationship	Existential restriction modifier
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	2
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	3
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	1
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Brachytelephalangy, facial dysmorphism, Kallmann syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Brachytelephalangy, facial dysmorphism, Kallmann 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

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Id	Description	Lang	Type	Status	Case?	Module
3321293013	Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3321294019	Brachytelephalangy, facial dysmorphism, Kallmann syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module