715986009: Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Camptodactyly\Rozin Hertz Goodman syndrome
\Deformity\Congenital deformity\Arthrogryposis\Rozin Hertz Goodman syndrome
\Deformity\Congenital deformity\Camptodactyly\Rozin Hertz Goodman syndrome
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Rozin Hertz Goodman syndrome

\Finding of limb structure\Deformity of limb\Camptodactyly\Rozin Hertz Goodman syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Rozin Hertz Goodman syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Rozin Hertz Goodman syndrome

\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Rozin Hertz Goodman syndrome
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Rozin Hertz Goodman 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\Rozin Hertz Goodman syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Rozin Hertz Goodman syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Rozin Hertz Goodman syndrome

\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Camptodactyly\Rozin Hertz Goodman syndrome

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Rozin Hertz Goodman syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Camptodactyly\Rozin Hertz Goodman syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Rozin Hertz Goodman syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Rozin Hertz Goodman syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Rozin Hertz Goodman syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Rozin Hertz Goodman syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Rozin Hertz Goodman syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Rozin Hertz Goodman syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Camptodactyly\Rozin Hertz Goodman syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Rozin Hertz Goodman syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Camptodactyly\Rozin Hertz Goodman syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Rozin Hertz Goodman syndrome
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Rozin Hertz Goodman syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Rozin Hertz Goodman syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Arthrogryposis\Rozin Hertz Goodman syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Camptodactyly\Rozin Hertz Goodman syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Rozin Hertz Goodman syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Camptodactyly\Rozin Hertz Goodman syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Rozin Hertz Goodman syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304330019 Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3304331015 Camptodactyly with joint contracture and facial skeletal defect syndrome en Synonym Active Case insensitive SNOMED CT core

3304332010 Rozin Hertz Goodman syndrome en Synonym Active Case sensitive SNOMED CT core

3304333017 Rozin camptodactyly syndrome en Synonym Active Case sensitive SNOMED CT core

3304334011 The association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Only four cases have been reported in the literature so far. The mode of inheritance remains to be confirmed, but both autosomal dominant and recessive transmission have been considered. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Rozin Hertz Goodman syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	3
Rozin Hertz Goodman syndrome	Finding site	Finger structure	false	Inferred relationship	Some	3
Rozin Hertz Goodman syndrome	Finding site	Musculoskeletal structure of digit of hand	false	Inferred relationship	Some	2
Rozin Hertz Goodman syndrome	Associated morphology	Flexion deformity	false	Inferred relationship	Some	2
Rozin Hertz Goodman syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Rozin Hertz Goodman syndrome	Associated morphology	Contracture	true	Inferred relationship	Some	1
Rozin Hertz Goodman syndrome	Is a	Congenital anomaly of joint	false	Inferred relationship	Some
Rozin Hertz Goodman syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Rozin Hertz Goodman syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
Rozin Hertz Goodman syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Rozin Hertz Goodman syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Rozin Hertz Goodman syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Rozin Hertz Goodman syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Rozin Hertz Goodman syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Rozin Hertz Goodman syndrome	Finding site	Joint structure	false	Inferred relationship	Some	1
Rozin Hertz Goodman syndrome	Interprets	Range of joint movement	true	Inferred relationship	Some	3
Rozin Hertz Goodman syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	3
Rozin Hertz Goodman syndrome	Finding site	Structure of joint region	true	Inferred relationship	Some	1
Rozin Hertz Goodman syndrome	Associated morphology	Fixed flexion deformity	true	Inferred relationship	Some	2
Rozin Hertz Goodman syndrome	Finding site	Musculoskeletal structure of digit	true	Inferred relationship	Some	2
Rozin Hertz Goodman syndrome	Is a	Camptodactyly	true	Inferred relationship	Some
Rozin Hertz Goodman syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Rozin Hertz Goodman syndrome	Is a	Arthrogryposis	true	Inferred relationship	Some
Rozin Hertz Goodman syndrome	Associated morphology	Flexion deformity	false	Inferred relationship	Some	4
Rozin Hertz Goodman syndrome	Finding site	Musculoskeletal structure of digit of hand	false	Inferred relationship	Some	4
Rozin Hertz Goodman syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Rozin Hertz Goodman syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Rozin Hertz Goodman syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	7
Rozin Hertz Goodman syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Rozin Hertz Goodman syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Rozin Hertz Goodman syndrome	Finding site	Face structure	true	Inferred relationship	Some	4
Rozin Hertz Goodman syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Rozin Hertz Goodman syndrome	Finding site	Face structure	false	Inferred relationship	Some	6
Rozin Hertz Goodman syndrome	Finding site	Finger structure	false	Inferred relationship	Some	7
Rozin Hertz Goodman syndrome	Associated morphology	Contracture	false	Inferred relationship	Some	5
Rozin Hertz Goodman syndrome	Finding site	Joint structure	false	Inferred relationship	Some	5

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304330019	Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3304331015	Camptodactyly with joint contracture and facial skeletal defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3304332010	Rozin Hertz Goodman syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3304333017	Rozin camptodactyly syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3304334011	The association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Only four cases have been reported in the literature so far. The mode of inheritance remains to be confirmed, but both autosomal dominant and recessive transmission have been considered.	en	Definition	Active	Case sensitive	SNOMED CT core