770565003: Microcephalic primordial dwarfism Dauber type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Dauber type
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Dauber type
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Dauber type
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Dauber type
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Dauber type
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Microcephalic primordial dwarfism Dauber type
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism Dauber type
• \Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Dauber type
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic primordial dwarfism Dauber type
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Microcephalic primordial dwarfism Dauber type
• \Functional finding\Cognitive function finding (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
• \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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Dauber type
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Dauber type
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Dauber type
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Dauber type
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Dauber type
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\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 malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalic primordial dwarfism Dauber type
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic primordial dwarfism Dauber type
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\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, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3701294017	Microcephalic primordial dwarfism Dauber type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3701295016	Microcephalic primordial dwarfism Dauber type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404812018	Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404813011	Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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