Autosomal recessive hereditary disorder	Congenital anomaly of face bones	Congenital dysplasia of limb	Developmental hereditary disorder	Dysostosis	Hereditary disorder of musculoskeletal system	Lesion of face	Multiple malformation syndrome with facial-limb defects as major feature	Structural abnormality of bone of limb
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Acrofacial dysostosis Kennedy Teebi type (disorder)
	Acrofacial dysostosis Kennedy Teebi type
	Kennedy Teebi syndrome
	A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.

Id	720427009
Status	Primitive

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

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

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.0
Term	Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan

SNOMED CT to ICD-10 extended map

Target	Q75.4
Rule	TRUE
Advice	ALWAYS Q75.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified