763863002: Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of thoracic structure\Deformity of chest wall\Deformity of rib\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Deformity\Deformity of thoracic structure\Deformity of chest wall\Deformity of sternum\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Deformity\Deformity of thoracic structure\Deformity of chest wall\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Deformity\Congenital deformity\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Deformity\Deformity of bone\Deformity of rib\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Deformity\Deformity of bone\Deformity of sternum\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Skin AND/OR mucosa finding\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails 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\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Pectus excavatum, macrocephaly, dysplastic nails syndrome

\Finding of limb structure\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Deformity of thoracic structure\Deformity of chest wall\Deformity of rib\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Deformity of thoracic structure\Deformity of chest wall\Deformity of sternum\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Deformity of thoracic structure\Deformity of chest wall\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Deformity of thoracic structure\Deformity of chest wall\Deformity of rib\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Deformity of thoracic structure\Deformity of chest wall\Deformity of sternum\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Deformity of thoracic structure\Deformity of chest wall\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Deformity of thoracic structure\Deformity of chest wall\Deformity of rib\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Deformity of thoracic structure\Deformity of chest wall\Deformity of sternum\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Deformity of thoracic structure\Deformity of chest wall\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Pectus excavatum, macrocephaly, dysplastic nails syndrome

\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails 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\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Pectus excavatum, macrocephaly, dysplastic nails 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\Pectus excavatum, macrocephaly, dysplastic nails 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\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Pectus excavatum, macrocephaly, dysplastic nails syndrome

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

\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Pectus excavatum, macrocephaly, dysplastic nails syndrome

\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Pectus excavatum, macrocephaly, dysplastic nails syndrome

\General finding of observation of patient\Body measurement finding\...

\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Pectus excavatum, macrocephaly, dysplastic nails syndrome

\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Pectus excavatum, macrocephaly, dysplastic nails 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\Pectus excavatum, macrocephaly, dysplastic nails 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\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Pectus excavatum, macrocephaly, dysplastic nails syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Deformity of rib\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Deformity of bone\Deformity of sternum\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Deformity of rib\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Deformity of sternum\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome

\Disease\Disorder of body wall\Deformity of chest wall\Deformity of rib\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of body wall\Deformity of chest wall\Deformity of sternum\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of body wall\Deformity of chest wall\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of body wall\Congenital anomaly of body wall\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of body wall\Congenital anomaly of body wall\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of body wall\Congenital anomaly of body wall\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Pectus excavatum, macrocephaly, dysplastic nails 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\Pectus excavatum, macrocephaly, dysplastic nails 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\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails 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 malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails 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 rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Deformity of rib\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Deformity of bone\Deformity of sternum\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Deformity of thoracic structure\Deformity of chest wall\Deformity of rib\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Deformity of thoracic structure\Deformity of chest wall\Deformity of sternum\Pectus deformity of chest\Pectus excavatum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Deformity of thoracic structure\Deformity of chest wall\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of body wall\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of body wall\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Pectus excavatum, macrocephaly, dysplastic nails 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\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of body wall\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of body wall\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital deformity of chest wall\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of sternum\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Congenital abnormal shape of rib\Congenital pectus excavatum\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Developmental abnormality of nail\Congenital anomaly of nail\Pectus excavatum, macrocephaly, dysplastic nails syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Pectus excavatum, macrocephaly, dysplastic nails syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3644789015 Zori Stalker Williams syndrome en Synonym Active Case sensitive SNOMED CT core

3644790012 Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3644791011 Pectus excavatum, macrocephaly, dysplastic nails syndrome en Synonym Active Case insensitive SNOMED CT core

3644792016 A rare multiple congenital anomalies syndrome with characteristics of relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Associated morphology	Enlargement	true	Inferred relationship	Some	2
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Associated morphology	Deformity	true	Inferred relationship	Some	1
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Associated morphology	Deformity	true	Inferred relationship	Some	3
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	4
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Finding site	Nail unit structure	true	Inferred relationship	Some	4
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	5
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Interprets	Head circumference	true	Inferred relationship	Some	6
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Finding site	Structure of head	true	Inferred relationship	Some	2
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Is a	Congenital macrocephaly	true	Inferred relationship	Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	6
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Is a	Skin lesion	true	Inferred relationship	Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Is a	Macrocephaly	false	Inferred relationship	Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Is a	Congenital anomaly of nail	true	Inferred relationship	Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Is a	Congenital pectus excavatum	true	Inferred relationship	Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Finding site	Nail structure	false	Inferred relationship	Some	4
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Associated morphology	Congenital deformity	false	Inferred relationship	Some	2
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Associated morphology	Congenital deformity	false	Inferred relationship	Some	1
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Finding site	Bone structure of sternum	false	Inferred relationship	Some	2
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Finding site	Bone structure of rib	true	Inferred relationship	Some	1
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Finding site	Bone structure of sternum	true	Inferred relationship	Some	3
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Finding site	Entire head	false	Inferred relationship	Some	3
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	3
Pectus excavatum, macrocephaly, dysplastic nails syndrome	Finding site	Entire head	false	Inferred relationship	Some	2

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
3644789015	Zori Stalker Williams syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3644790012	Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3644791011	Pectus excavatum, macrocephaly, dysplastic nails syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3644792016	A rare multiple congenital anomalies syndrome with characteristics of relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.	en	Definition	Active	Case sensitive	SNOMED CT core