770565003: Microcephalic primordial dwarfism Dauber type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Microcephalic primordial dwarfism Dauber type
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism Dauber type
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic primordial dwarfism Dauber type
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Dauber type
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Dauber type
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic primordial dwarfism Dauber type
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Dauber type
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Microcephalic primordial dwarfism Dauber type
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Microcephalic primordial dwarfism Dauber type
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Microcephalic primordial dwarfism Dauber type
• \General finding of observation of patient\Body measurement finding\...
• \Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism Dauber type
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic primordial dwarfism Dauber type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic primordial dwarfism Dauber type
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic primordial dwarfism Dauber type
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Dauber type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic primordial dwarfism Dauber type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Dauber type
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Dauber type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalic primordial dwarfism Dauber type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Dauber type
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Microcephalic primordial dwarfism Dauber type
• \Disease\Developmental disorder\Developmental hereditary disorder\Microcephalic primordial dwarfism Dauber type
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Dauber type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalic primordial dwarfism Dauber type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Dauber type
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism Dauber type

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3701294017	Microcephalic primordial dwarfism Dauber type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3701295016	Microcephalic primordial dwarfism Dauber type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3701296015	A rare genetic developmental defect during embryogenesis with characteristics of severe pre and postnatal growth retardation, severe microcephaly, severe developmental delay and intellectual disability, severe adult short stature and facial dysmorphism (including hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.	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

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