Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome 726672000

SNOMED CT code

SNOMED code

726672000

name

Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome

status

active

date introduced

2017-07-31

fully specified name(s)

Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)

synonyms

Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome
Pfeiffer Palm Teller syndrome
PPT (Pfeiffer Palm Teller) syndrome

attributes - group1

Finding site

Enamel structure 76993005

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Hypoplasia 55199003

attributes - group2

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

External ear structure 28347008

attributes - group3

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Face structure 89545001

Occurrence

Congenital 255399007

attributes - group4

Interprets

Height / growth measure 271603002

attributes - group5

Interprets

Intellectual ability 247573007

Has interpretation

Impaired 260379002

attributes - group6

Interprets

Adaptation behavior 406208005

Has interpretation

Impaired 260379002

parents

Intellectual disability 110359009
Short stature disorder 237836003
Enamel hypoplasia 26597004
Congenital abnormality of external ear 282038006
Auditory system hereditary disorder 362991006
Multiple malformation syndrome with facial defects as major feature 65094009
Amelogenesis imperfecta 78494001
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Mental state, behavior and/or psychosocial function finding 384821006
Behavior finding 844005
Intellectual disability 110359009
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome 726672000

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of general physiological development 271616002
Disorder of stature 237834000
Short stature disorder 237836003
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome 726672000

SNOMED CT Concept 138875005
Clinical finding 404684003
Digestive system finding 386617003
Disorder of digestive system 53619000
Disorder of digestive organ 76712006
Tooth disorder 234947003
Disorder of hard tissues of teeth 46557008
Enamel hypoplasia 26597004
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome 726672000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of sensory organ 1279550006
Disorder of ear 25906001
Congenital malformation of ear 275259005
Congenital abnormality of external ear 282038006
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome 726672000

SNOMED CT Concept 138875005
Clinical finding 404684003
Ear and auditory finding 118236001
Disorder of auditory system 362966006
Auditory system hereditary disorder 362991006
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome 726672000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of head 118934005
Disorder of face 118930001
Congenital anomaly of face 398302004
Multiple malformation syndrome with facial defects as major feature 65094009
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome 726672000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Amelogenesis imperfecta 78494001
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome 726672000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome 726672000

ancestors

sorted most to least specific

Intellectual disability 110359009
Short stature disorder 237836003
Enamel hypoplasia 26597004
Congenital abnormality of external ear 282038006
Auditory system hereditary disorder 362991006
Multiple malformation syndrome with facial defects as major feature 65094009
Amelogenesis imperfecta 78494001
Autosomal recessive hereditary disorder 85995004
Intellectual ability - finding 365814006
Disorder of stature 237834000
Disorder of hard tissues of teeth 46557008
Congenital malformation of ear 275259005
Congenital anomaly of face 398302004
Hereditary disorder of tooth 1148766007
Autosomal hereditary disorder 1899006
Impaired cognition 386806002
Neurodevelopmental disorder 700364009
Behavior finding 844005
Disorder of external ear 49130001
Multiple system malformation syndrome 82354003
Developmental hereditary disorder 363070008
Congenital anomaly of tooth 422977003
Intelligence finding 106137004
General finding of height 248327008
Disorder of ear 25906001
Disorder of face 118930001
Cognitive function finding 373930000
Mental state, behavior and/or psychosocial function finding 384821006
Finding of general physiological development 271616002
Congenital malformation syndrome 400038003
Congenital anomaly of digestive organ 128332003
Digestive system hereditary disorder 363080007
External ear finding 300083003
Congenital abnormality of oral cavity 282041002
Malformation of tooth 422775003
Congenital anomaly of jaw 95473006
Functional finding 118228005
Height / growth finding 365714001
Disorder of auditory system 362966006
Disorder of sensory organ 1279550006
Ear, nose and throat disorder 232208008
Ear finding 247234006
Hereditary disorder by system 363137000
Finding of face 301310005
Disorder of tooth development 371136004
Congenital anomaly of mouth 128334002
Body measurement finding 365605003
Tooth disorder 234947003
Ear and auditory finding 118236001
Hereditary disease 32895009
Congenital anomaly of head 87290003
Ear, nose and throat finding 297268004
Congenital malformation of upper alimentary tract 275262008
Disorder of teeth AND/OR supporting structures 105995000
Genetic disease 782964007
Tooth finding 278544002
Disorder of digestive organ 76712006
Congenital anomaly of digestive tract 95470009
Oral cavity finding 116337000
Disease of mouth 118938008
Disorder of jaw 37156001
Congenital anomaly of digestive system 69518005
Finding of mouth region 423066003
Disorder of head 118934005
Congenital malformation 276654001
Disorder of upper digestive tract 50410009
Finding of head region 298364001
Developmental disorder 5294002
Disorder of digestive tract 84410009
Congenital disease 66091009
Head finding 406122000
Disorder of digestive system 53619000
Finding of head and neck region 118254002
Disorder of body system 362965005
Digestive system finding 386617003
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Mental state, behavior and/or psychosocial function finding 384821006

Behavior finding 844005

Intellectual disability 110359009

Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome 726672000

SNOMED CT code