Amelogenesis imperfecta	Auditory system hereditary disorder	Autosomal recessive hereditary disorder	Congenital abnormality of external ear	Enamel hypoplasia	Intellectual disability	Multiple malformation syndrome with facial defects as major feature	Short stature disorder
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Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)
	Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome
	Pfeiffer Palm Teller syndrome PPT (Pfeiffer Palm Teller) syndrome
	A very rare dysmorphic syndrome described in two siblings. The syndrome has characteristics of short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears and narrow palpebral fissures with epicanthal folds and intellectual deficit.
	syndroom van kleine gestalte, uniek aangezicht, hypoplasie van tandglazuur, progressieve stijfheid van gewrichten en hoog stemgeluid
	PPT-syndroom syndroom van Pfeiffer-Palm-Teller

Id	726672000
Status	Primitive

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

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

Associated morphology	Hypoplasia
Finding site	Enamel structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Interprets

Height / growth measure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.1
Rule	TRUE
Advice	ALWAYS Q87.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified