721086004: Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome

\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of limb structure\Finding of lower limb\Finding of bone of lower limb\Finding of bone of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Finding of bone of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Finding of bone in hand\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of bone in hand\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome

\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of lower limb\Finding of bone of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Finding of bone in hand\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome

\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of metacarpal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3323433019 Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3323434013 Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome en Synonym Active Case insensitive SNOMED CT core

3323435014 Pfeiffer Kapferer syndrome en Synonym Active Case sensitive SNOMED CT core

3323436010 This syndrome has characteristics of sensorineural deafness, bilateral synostosis of the fourth and fifth metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Finding site	Metacarpal bone structure	true	Inferred relationship	Some	1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Finding site	Metatarsal bone structure	true	Inferred relationship	Some	3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Finding site	Genital structure	true	Inferred relationship	Some	4
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	5
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Is a	Congenital anomaly of metatarsal bone	true	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Is a	Congenital anomaly of metacarpal bone	true	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Is a	Congenital malformation of genital organs	true	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Finding site	Ear structure	false	Inferred relationship	Some	5
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Interprets	Hearing	true	Inferred relationship	Some	6
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Finding site	Metacarpal bone structure	false	Inferred relationship	Some	7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	9
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	10
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	10
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Finding site	Face structure	false	Inferred relationship	Some	10
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	9
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Finding site	Metatarsal bone structure	false	Inferred relationship	Some	9
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Finding site	Genital structure	false	Inferred relationship	Some	8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3323433019	Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323434013	Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3323435014	Pfeiffer Kapferer syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3323436010	This syndrome has characteristics of sensorineural deafness, bilateral synostosis of the fourth and fifth metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).	en	Definition	Active	Case sensitive	SNOMED CT core