Alopecia	Developmental hereditary disorder	Disorder of ornithine metabolism	Disorder of the central nervous system	Global developmental delay	Hereditary disorder of the integument	Inherited metabolic disorder of nervous system	Intellectual disability	Macrocephaly	Multiple malformation syndrome with facial defects as major feature
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Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (disorder)
	Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
	Ornithine decarboxylase deficiency Bachmann Bupp syndrome
	A rare disorder of ornithine metabolism with characteristics of global developmental delay, alopecia, macrocephaly and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism and clinodactyly among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces.

Id	1222658006
Status	Primitive

Finding site

Structure of central nervous system

Has interpretation	Above reference range
Interprets	Head circumference

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Absence
Finding site	Hair structure

ICD-10 complex map reference set

Target	E72.4
Rule	TRUE
Advice	ALWAYS E72.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified