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 anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Brachytelephalangy, facial dysmorphism, Kallmann syndrome
• \Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Brachytelephalangy, facial dysmorphism, Kallmann syndrome
• \Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321293013	Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3321294019	Brachytelephalangy, facial dysmorphism, Kallmann syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3321295018	A developmental anomaly with characteristics of brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). This anomaly has been described in a mother and her son and there have been no further descriptions in the literature since 1986.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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