773625007: Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome

\Finding of limb structure\Nail finding\Disorder of nail\Genetic disorder of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Finding of limb structure\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis 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\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome

\Disease\Genetic disease\Genetic disorder of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Developmental disorder\Developmental abnormality of nail\Congenital anomaly of nail\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3724864012 SOFT syndrome en Synonym Active Case sensitive SNOMED CT core

3724865013 Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3724866014 Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome en Synonym Active Case insensitive SNOMED CT core

3724867017 SOFT (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome en Synonym Active Case sensitive SNOMED CT core

3724868010 A rare genetic primary bone dysplasia disorder with characteristics of severe pre and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears) early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly as well as a high-pitched voice are also associated. There is evidence the disease can be caused by homozygous mutation in the POC1A gene on chromosome 3p21. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Is a	Congenital anomaly of nail	true	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Finding site	Hair structure	true	Inferred relationship	Some	4
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Is a	Congenital hypotrichia	true	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	4
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Finding site	Nail unit structure	true	Inferred relationship	Some	2
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Is a	Disorder of nail	false	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Is a	Genetic disorder of nail	true	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	5
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Is a	Skin lesion	true	Inferred relationship	Some

Inbound Relationships

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Active

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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
3724864012	SOFT syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3724865013	Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3724866014	Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3724867017	SOFT (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3724868010	A rare genetic primary bone dysplasia disorder with characteristics of severe pre and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears) early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly as well as a high-pitched voice are also associated. There is evidence the disease can be caused by homozygous mutation in the POC1A gene on chromosome 3p21.	en	Definition	Active	Case sensitive	SNOMED CT core