Acanthosis nigricans	Achondroplasia	Developmental delay	Hereditary disorder of the integument
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Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)
	Severe achondroplasia, developmental delay, acanthosis nigricans syndrome
	SADDAN (severe achondroplasia, developmental delay, acanthosis nigricans) syndrome
	Syndrome with the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).
	syndroom van ernstige achondroplasie, ontwikkelingsachterstand en acanthosis nigricans

Id	874931001
Status	Primitive

Has interpretation	Abnormal
Interprets	Keratinization

Finding site	Structure of integumentary system
Occurrence	Congenital

Associated morphology	Dysplasia
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hypoplasia
Finding site	Structure of epiphysis
Occurrence	Congenital
Pathological process	Pathological developmental process

Interprets

Height / growth measure

ICD-10 complex map reference set

Target	Q77.4
Rule	TRUE
Advice	ALWAYS Q77.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified